Whole Genome Laboratory (WGL)

The development and clinical implementation of the Whole Exome Sequencing test derives from a joint effort by Baylor's Human Genome Sequencing Center and Baylor Miraca Genetics Laboratories to establish a clinical laboratory dedicated to state-of-the-art next generation sequencing. The collaboration between these groups brings together genomic scientists, clinical laboratory scientists, and clinicians to provide reliable genome-wide analyses that are carefully annotated and interpreted for clinical significance by medical geneticists. Whole Exome Sequencing is the first test to be offered by BMGL and is focused on the evaluation of underlying genetic causes of disease. In the near future, BMGL will implement additional clinical tests, including Whole Genome Sequencing (WGS) that will bring this technology to other aspects of medical care and treatment.

The Whole Exome Sequencing for the Evaluation of Mendelian Disorders applies the power of next generation sequencing technology to clinical genetics in a CLIA approved setting with clinical interpretation of the sequence information. Whole Exome Sequencing (WES) is poised to change the current paradigm of genetic testing for Mendelian disorders, pharmacogenetic traits, and potentially complex traits. Rather than limiting testing to a single gene or panel of genes and incurring diagnostic delays and escalating costs, the Whole Exome Sequencing test will sequence nucleotide by nucleotide, the human exome to the depth of coverage required to achieve a consensus sequence with high accuracy. Point mutations, insertions, deletions, inversions, and rearrangements of the exome are potentially discoverable and could be considered pathologic depending on the defect. The reporting of the Whole Exome Sequencing test will focus on known or predicted deleterious mutations in genes known to be associated with human disorders, however, significant potentially medically actionable findings in other genes of interest will also be communicated for future reference.